Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48485454A>T , CM000677.2:g.48485454A>T | GRCh38 |
| NC_000015.9:g.48777651A>T , CM000677.1:g.48777651A>T | GRCh37 |
| NC_000015.8:g.46564943A>T | NCBI36 |
| NG_008805.2:g.165335T>A , LRG_778:g.165335T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3632T>A | ENSP00000453958.2:p.Phe1211Tyr | |
| ENST00000674301.2:c.3632T>A | ENSP00000501333.2:p.Phe1211Tyr | |
| ENST00000684448.1:n.2306T>A | ||
| ENST00000316623.10:c.3632T>A MANE Select | ENSP00000325527.5:p.Phe1211Tyr | |
| ENST00000316623.9:c.3632T>A | ENSP00000325527.5:p.Phe1211Tyr | |
| ENST00000537463.6:c.637-10804T>A | ENSP00000440294.2:n.637-10804T>A | |
| NM_000138.4:c.3632T>A , LRG_778t1:c.3632T>A | NP_000129.3:p.Phe1211Tyr | |
| NM_000138.5:c.3632T>A MANE Select | NP_000129.3:p.Phe1211Tyr |